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GENATLAS PHENOTYPE

last update : 25/11/2008

Symbol	PVSD
Location	1p13
Name	pelviscapular dysplasia
Other name(s)	Cousin disease
Corresponding gene	TBX15
Main clinical features	congenital dwarfism, facial dysmorphism, and several skeletal anomalies, most strikingly bilateral agenesis of the ala (wings) of the scapula and hypoplasia of the ala of the ilium and acetabulum, resulting in hip dislocation moderate psychomotor retardation associated
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	mental retardation
Type	disease

Remark(s)

mutations predicted the synthesis of TBX15 protein that had an intact T-box but lacked a significant portion of the C-terminal region and had instead a stretch of 78 (or 77) missense amino acids that included five cysteine residues